Xp22.32CNV Type: Deletion-Duplication
Largest CNV size: 360000 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cai_08_ASD_discovery_cases
Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
279
270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
Mean 7.94 yrs
79.6% Male
18000
0
16
16
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
510000
0
1
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
206781
0
2
2
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
1356133
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
1356134
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
27708
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
38000
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
18577
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
99900
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
247569
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
29986
6
0
6
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
360000
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
76545
1
0
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
13969
2
0
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
29986
6
0
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cai_08_ASD_discovery_cases
205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
MLPA
ABI 3130 genetic analyzer (Applied Biosystem)
GeneMarker
Direct DNA sequencing qPCR, FISH
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cai_08_ASD_discovery_controls
Caucasian
qPCR
ABI Prism 7900 HT (Applied Biosystem)
Sequence Detection
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cai_08_ASD_discovery_cases-AU000504
13.44
F
Autism
Verbal language 19, Social 28, Repetitive behavior 3, Onset 4, Raven NA, Sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU001803
4.07
M
Autism
Non-verbal language 10, Social 15, Repetitive behavior 6, Onset 5, Raven 104
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU001804
7.01
M
Broad Spectrum
Verbal language 7, Social 3, Repetitive behavior 7, Onset 5, Raven 131
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU005303
5.31
M
Autism
Verbal language 15, Social 28, Repetitive behavior 4, Onset 4, Raven 107, Sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU005304
8.46
M
Autism
Verbal language 12, Social 24, Repetitive behavior 4, Onset 5, Raven 100, Sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU010804
13.33
M
Autism
Non-verbal language 14, Social 26, Repetitive behavior 8, Onset 2, Raven NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU012304
10.51
F
Autism
Verbal language 25, Social 27, Repetitive behavior 9, Onset 3, Raven 104, Sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU024203
10.32
M
Autism
Non-verbal language 14, Social 27, Repetitive behavior 9, Onset 3, Raven 104, no info on sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU024204
12.63
M
Broad Spectrum
Verbal language 9, Social 5, Repetitive behavior 2, Onset 5, Raven 53, sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU029303
8.31
M
Broad Spectrum
Non-verbal language 3, Social 12, Repetitive behavior 6, Onset 4, Raven 83, sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU029304
10.65
M
Autism
Non-verbal language 10, Social 16, Repetitive behavior 6, Onset 5, Raven 114, sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU033604
3.95
M
Autism
Non-verbal language 12, Social 15, Repetitive behavior 3, Onset 4, Raven 78, sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU033605
6.63
M
Autism
Verbal language 18, Social 23, Repetitive behavior 5, Onset 4, Raven NA, sleep disorder
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU037905
5.79
M
Broad Spectrum
Non-verbal language 12, Social 21, Repetitive behavior 1, Onset 4, Raven NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU037906
7.24
F
Autism
Non-verbal language 11, Social 27, Repetitive behavior 3, Onset 4, Raven NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU062603
7.42
M
Autism
Verbal language 21, Social 28, Repetitive behavior 4, Onset 4, Raven 97, sleep disorder NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU062703
6.72
M
Autism
Verbal language 23, Social 29, Repetitive behavior 5, Onset 3, Raven NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU062704
11.93
M
Autism
Verbal language 18, Social 26, Repetitive behavior 4, Onset 3, Raven NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU070908
5.99
F
Autism
Verbal language 16, Social 22, Repetitive behavior 4, Onset 1, Raven NA, sleep disorder NA
NA
18000
Unknown
Duplication
Yes
cai_08_ASD_discovery_cases-AU074604
4.9
F
Autism
Non-verbal language 13, Social 29, Repetitive behavior 4, Onset 3, Raven NA
NA
18000
Unknown
Duplication
Yes
christian_08_ASD_discovery_cases-AU0930202
NA
F
ASD
NA
NA
5096182
5456612
360431
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14111_2000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5396829
5603610
206782
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8437_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5088558
5243513
154956
GRCh38
Duplication
No
kushima_18_ASD_discovery_cases-caseASD0278
11 yrs.
M
ASD, ID
Developmental milestones: language delay. Behavioral/psychiatric evaluation: echolalia. Family history: negative.
Intellectual disability (IQ < 70)
4692064
6048196
1356133
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0278
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
4692063
6048196
1356134
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case42
21 yrs.
F
Intellectual disability
Intellectual disability
5926823
5954531
27709
GRCh38
Deletion
No
lesca_12_EP_discovery_cases-case025a
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Awake, nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes.
4997214
5035680
38467
GRCh38
Duplication
No
nord_11_ASD_discovery_cases-213-1
ASD
5489063
5507639
18577
Unknown
Deletion
No
oikonomakis_16_ASD_discovery_cases-case473
6 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: epicanthal folds, flat nasal bridge, micrognathia, small teeth, long philtrum, high arched palate
5890647
5990619
99973
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case18406
NA
NA
ASD
NA
NA
5024222
5271791
247569
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11063.p1
9.3
M
Aspergers
NA
Full-scale IQ, 101; non-verbal IQ, 101; verbal IQ, 103
5567466
5579817
12352
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
4830956
4860942
29987
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
5567466
5577178
9713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
5567466
5577178
9713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12948.p1
17.9
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 57; verbal IQ, 81
5387196
5403309
16114
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12972.p1
10.8
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 63
4830956
4860942
29987
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cai_08_ASD_discovery_controls-control10
NA
Control
NA
NA
18000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control7
NA
Control
NA
NA
18000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control8
NA
Control
NA
NA
18000
Unknown
Duplication
No
cai_08_ASD_discovery_controls-control9
NA
Control
NA
NA
18000
Unknown
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
N/A
N/A
Control
No previous psychiatric history
4812746
4889291
76546
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27412
Control
5491535
5505503
13969
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28417
Control
5493141
5505503
12363
Unknown
Deletion
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
5567466
5579817
12352
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
4830956
4860942
29987
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
5567466
5577178
9713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
5567466
5577178
9713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
5132800
5143279
10480
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
5387196
5403309
16114
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cai_08_ASD_discovery_cases-AU000504
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU001803
qPCR
Paternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU001804
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU005303
qPCR
Paternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU005304
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU010804
qPCR
Paternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU012304
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU024203
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU024204
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU029303
qPCR
Paternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU029304
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU033604
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU033605
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU037905
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU037906
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU062603
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU062703
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU062704
qPCR
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU070908
qPCR
Maternal
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_cases-AU074604
qPCR
Paternal
NA
NA
1 gene (ASMT)
christian_08_ASD_discovery_cases-AU0930202
FISH, microsatellite
inherited
Multiplex
NA
MTND6P12,MTCYBP12
engchuan_15_ASD_discovery_cases-case14111_2000
Unknown
engchuan_15_ASD_discovery_cases-case8437_202
Unknown
MTND6P12,MTCYBP12
kushima_18_ASD_discovery_cases-caseASD0278
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
MTND6P12,MTCYBP12,NLGN4X
kushima_22_ASD_discovery_cases-caseASD0278
qRT-PCR
Unknown
NLGN4X,HADHBP1,MTCYBP12,MTND6P12
lee_17_ASD/DD/ID/MCA_discovery_cases-case42
Unknown
NLGN4X
lesca_12_EP_discovery_cases-case025a
Unknown
Unknown
Unknown
nord_11_ASD_discovery_cases-213-1
Maternal
0 genes
oikonomakis_16_ASD_discovery_cases-case473
Unknown
NLGN4X
rosenfeld_10_ASD_discovery_cases-case18406
FISH
Maternal
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11063.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11869.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12313.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12948.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12972.p1
Unknown
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cai_08_ASD_discovery_controls-control10
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_controls-control7
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_controls-control8
Unknown
NA
NA
1 gene (ASMT)
cai_08_ASD_discovery_controls-control9
Unknown
NA
NA
1 gene (ASMT)
engchuan_15_ASD_discovery_controls-controlHABC_902429_902429
Unknown
nord_11_ASD_discovery_controls-04C27412
0 genes
nord_11_ASD_discovery_controls-04C28417
0 genes
sanders_11_ASD_discovery_controls-11459.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11475.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11869.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12227.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12853.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available